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PIF1 PIF1 5'-to-3' DNA helicase [ Homo sapiens (human) ]

Gene ID: 80119, updated on 1-Jun-2020

Summary

Official Symbol
PIF1provided by HGNC
Official Full Name
PIF1 5'-to-3' DNA helicaseprovided by HGNC
Primary source
HGNC:HGNC:26220
See related
Ensembl:ENSG00000140451 MIM:610953
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIF; C15orf20
Summary
This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
Expression
Broad expression in lymph node (RPKM 2.4), appendix (RPKM 1.6) and 19 other tissues See more
Orthologs

Genomic context

See PIF1 in Genome Data Viewer
Location:
15q22.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (64815632..64827173, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65107831..65117867, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984737 Neighboring gene RNA binding protein, mRNA processing factor 2 Neighboring gene microRNA 1272 Neighboring gene pleckstrin homology domain containing O2 Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene uncharacterized LOC107984754

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
5'-3' DNA/RNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded DNA-dependent ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
telomerase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial genome maintenance IEA
Inferred from Electronic Annotation
more info
 
negative regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
regulation of telomere maintenance IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ATP-dependent DNA helicase PIF1
Names
DNA repair and recombination helicase PIF1
PIF1 5'-to-3' DNA helicase homolog
PIF1/RRM3 DNA helicase-like protein
petite integration frequency 1
NP_001273425.1
NP_001273426.1
NP_001273428.1
NP_079325.2
XP_011520385.1
XP_011520386.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286496.2NP_001273425.1  ATP-dependent DNA helicase PIF1 isoform a

    See identical proteins and their annotated locations for NP_001273425.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. This variant can initiate translation from both an upstream and a downstream AUG start codon. The isoform represented in this variant (a, also known as alpha or alpha-1) initiates translation from the upstream AUG. This isoform localizes to the nucleus (PMID: 17827721). Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AB185926, BC033254, EU084033
    Consensus CDS
    CCDS10195.2
    UniProtKB/Swiss-Prot
    Q9H611
    Related
    ENSP00000452792.1, ENST00000559239.2
    Conserved Domains (4) summary
    pfam05970
    Location:206504
    PIF1; PIF1-like helicase
    cl26464
    Location:27209
    Atrophin-1; Atrophin-1 family
    cl27278
    Location:487640
    MobA_MobL; MobA/MobL family
    cl28079
    Location:551599
    Herpes_Helicase; Helicase
  2. NM_001286497.2NP_001273426.1  ATP-dependent DNA helicase PIF1 isoform b

    See identical proteins and their annotated locations for NP_001273426.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and contains an alternate exon structure in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b, also known as beta) has a distinct C-terminus and is longer than isoform a. This isoform localizes to the mitochondria (PMID: 17827721).
    Source sequence(s)
    AB185927, EU084033
    Consensus CDS
    CCDS66797.1
    UniProtKB/Swiss-Prot
    Q9H611
    Related
    ENSP00000328174.6, ENST00000333425.10
    Conserved Domains (2) summary
    pfam05970
    Location:206504
    PIF1; PIF1-like helicase
    pfam02689
    Location:551611
    Herpes_Helicase; Helicase
  3. NM_001286499.2NP_001273428.1  ATP-dependent DNA helicase PIF1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. This variant can initiate translation from both an upstream and a downstream AUG start codon. The isoform represented in this variant (c, also known as alpha-54) initiates translation from a downstream AUG. This isoform localizes to the mitochondria (PMID: 23275553).
    Source sequence(s)
    AB185926, BC033254, EU084033
    UniProtKB/Swiss-Prot
    Q9H611
    Conserved Domains (2) summary
    pfam05970
    Location:153451
    PIF1; PIF1-like helicase
    pfam02689
    Location:498558
    Herpes_Helicase; Helicase
  4. NM_025049.4NP_079325.2  ATP-dependent DNA helicase PIF1 isoform a

    See identical proteins and their annotated locations for NP_079325.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. This variant can initiate translation from both an upstream and a downstream AUG start codon. The isoform represented in this variant (a, also known as alpha or alpha-1) initiates translation from the upstream AUG. This isoform localizes to the nucleus (PMID: 17827721). Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AB185926, AC091582
    Consensus CDS
    CCDS10195.2
    UniProtKB/Swiss-Prot
    Q9H611
    Related
    ENSP00000268043.4, ENST00000268043.8
    Conserved Domains (4) summary
    pfam05970
    Location:206504
    PIF1; PIF1-like helicase
    cl26464
    Location:27209
    Atrophin-1; Atrophin-1 family
    cl27278
    Location:487640
    MobA_MobL; MobA/MobL family
    cl28079
    Location:551599
    Herpes_Helicase; Helicase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    64815632..64827173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522083.2XP_011520385.1  ATP-dependent DNA helicase PIF1 isoform X1

    See identical proteins and their annotated locations for XP_011520385.1

    UniProtKB/Swiss-Prot
    Q9H611
    Conserved Domains (4) summary
    pfam05970
    Location:206504
    PIF1; PIF1-like helicase
    cl26464
    Location:27209
    Atrophin-1; Atrophin-1 family
    cl27278
    Location:487640
    MobA_MobL; MobA/MobL family
    cl28079
    Location:551599
    Herpes_Helicase; Helicase
  2. XM_011522084.2XP_011520386.1  ATP-dependent DNA helicase PIF1 isoform X1

    See identical proteins and their annotated locations for XP_011520386.1

    UniProtKB/Swiss-Prot
    Q9H611
    Conserved Domains (4) summary
    pfam05970
    Location:206504
    PIF1; PIF1-like helicase
    cl26464
    Location:27209
    Atrophin-1; Atrophin-1 family
    cl27278
    Location:487640
    MobA_MobL; MobA/MobL family
    cl28079
    Location:551599
    Herpes_Helicase; Helicase

RNA

  1. XR_931915.2 RNA Sequence

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